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Results: 1-23 |
Results: 23
INFANTILE FIBER-TYPE DISPROPORTION, MYOFIBRILLAR LYSIS AND CARDIOMYOPATHY - A DISORDER IN 3 UNRELATED DUTCH FAMILIES
Authors: BARTH PG WANDERS RJA RUITENBEEK W ROE C SCHOLTE HR VANDERHARTEN H VANMOORSEL J DURAN M DINGEMANS KP
Citation: Pg. Barth et al., INFANTILE FIBER-TYPE DISPROPORTION, MYOFIBRILLAR LYSIS AND CARDIOMYOPATHY - A DISORDER IN 3 UNRELATED DUTCH FAMILIES, Neuromuscular disorders, 8(5), 1998, pp. 296-304
VERY LONG-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY WITH ADULT-ONSET
Authors: SMELT AHM POORTHUIS BJHM ONKENHOUT W SCHOLTE HR ANDRESEN BS VANDUINEN SG GREGERSEN N WINTZEN AR
Citation: Ahm. Smelt et al., VERY LONG-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY WITH ADULT-ONSET, Annals of neurology, 43(4), 1998, pp. 540-544
L-2-HYDROXYGLUTARIC ACIDURIA AND LACTIC-ACIDOSIS
Authors: BARTH PG WANDERS RJA SCHOLTE HR ABELING N JAKOBS C SCHUTGENS RBH VREKEN P
Citation: Pg. Barth et al., L-2-HYDROXYGLUTARIC ACIDURIA AND LACTIC-ACIDOSIS, Journal of inherited metabolic disease, 21(3), 1998, pp. 251-254
FATAL NEONATAL MALONIC ACIDURIA
Authors: BUYUKGEBIZ B JAKOBS C SCHOLTE HR HUIJMANS JGM KLEIJER WJ
Citation: B. Buyukgebiz et al., FATAL NEONATAL MALONIC ACIDURIA, Journal of inherited metabolic disease, 21(1), 1998, pp. 76-77
A MITOCHONDRIAL TRNA(VAL) GENE MUTATION (G1642A) IN A PATIENT WITH MITOCHONDRIAL MYOPATHY, LACTIC-ACIDOSIS, AND STROKE-LIKE EPISODES
Authors: DECOO IFM SISTERMANS EA DEWIJS IJ CATSMANBERREVOETS C BUSCH HFM SCHOLTE HR DEKLERK JBC VANOOST BA SMEETS HJM
Citation: Ifm. Decoo et al., A MITOCHONDRIAL TRNA(VAL) GENE MUTATION (G1642A) IN A PATIENT WITH MITOCHONDRIAL MYOPATHY, LACTIC-ACIDOSIS, AND STROKE-LIKE EPISODES, Neurology, 50(1), 1998, pp. 293-295
RAPID ISOLATION OF MUSCLE AND HEART-MITOCHONDRIA, THE LABILITY OF OXIDATIVE-PHOSPHORYLATION AND ATTEMPTS TO STABILIZE THE PROCESS IN-VITRO BY TAURINE, CARNITINE AND OTHER COMPOUNDS
Authors: SCHOLTE HR YU YH ROSS JD OOSTERKAMP II BOONMAN AMC BUSCH HFM
Citation: Hr. Scholte et al., RAPID ISOLATION OF MUSCLE AND HEART-MITOCHONDRIA, THE LABILITY OF OXIDATIVE-PHOSPHORYLATION AND ATTEMPTS TO STABILIZE THE PROCESS IN-VITRO BY TAURINE, CARNITINE AND OTHER COMPOUNDS, Molecular and cellular biochemistry, 174(1-2), 1997, pp. 61-66
EFFECT OF LAMIVUDINE ON MORPHOLOGY AND FUNCTION OF MITOCHONDRIA IN PATIENTS WITH CHRONIC HEPATITIS-B
Authors: HONKOOP P DEMAN RA SCHOLTE HR ZONDERVAN PE VANDENBERG JWO RADEMAKERS LHPM SCHALM SW
Citation: P. Honkoop et al., EFFECT OF LAMIVUDINE ON MORPHOLOGY AND FUNCTION OF MITOCHONDRIA IN PATIENTS WITH CHRONIC HEPATITIS-B, Hepatology, 26(1), 1997, pp. 211-215
ACUTE MYOCARDIAL-ISCHEMIA INDUCES CARDIAC CARNITINE RELEASE IN MAN
Authors: BARTELS GL REMME WJ SCHOLTE HR
Citation: Gl. Bartels et al., ACUTE MYOCARDIAL-ISCHEMIA INDUCES CARDIAC CARNITINE RELEASE IN MAN, European heart journal, 18(1), 1997, pp. 84-90
MITOCHONDRIAL INJURY - LESSONS FROM THE FIALURIDINE TRIAL
Authors: HONKOOP P SCHOLTE HR DEMAN RA SCHALM SW
Citation: P. Honkoop et al., MITOCHONDRIAL INJURY - LESSONS FROM THE FIALURIDINE TRIAL, Drug safety, 17(1), 1997, pp. 1-7
MOLECULAR-GENETIC ANALYSIS OF COMPLEX-I GENES IN PATIENTS WITH A DEFICIENCY OF COMPLEX-I OF THE RESPIRATORY-CHAIN
Authors: BUDDIGER PAL RUITENBEEK W SCHOLTE HR VANOOST BA SMEETS HJM DECOO IFM
Citation: Pal. Buddiger et al., MOLECULAR-GENETIC ANALYSIS OF COMPLEX-I GENES IN PATIENTS WITH A DEFICIENCY OF COMPLEX-I OF THE RESPIRATORY-CHAIN, American journal of human genetics, 61(4), 1997, pp. 1779-1779
FATAL NEONATAL LIVER-FAILURE AND DEPLETION OF MITOCHONDRIAL-DNA IN 3 CHILDREN OF ONE FAMILY
Authors: BAKKER HD VANDENBOGERT C SCHOLTE HR ZWART R WIJBURG FA SPELBRINK JN
Citation: Hd. Bakker et al., FATAL NEONATAL LIVER-FAILURE AND DEPLETION OF MITOCHONDRIAL-DNA IN 3 CHILDREN OF ONE FAMILY, Journal of inherited metabolic disease, 19(2), 1996, pp. 112-114
PROGRESSIVE GENERALIZED BRAIN ATROPHY AND INFANTILE SPASMS ASSOCIATEDWITH CYTOCHROME-C-OXIDASE DEFICIENCY
Authors: BAKKER HD VANDENBOGERT C DREWES JG BARTH PG SCHOLTE HR WANDERS RJA RUITENBEEK W
Citation: Hd. Bakker et al., PROGRESSIVE GENERALIZED BRAIN ATROPHY AND INFANTILE SPASMS ASSOCIATEDWITH CYTOCHROME-C-OXIDASE DEFICIENCY, Journal of inherited metabolic disease, 19(2), 1996, pp. 153-156
X-LINKED CARDIOSKELETAL MYOPATHY AND NEUTROPENIA (BARTH SYNDROME) - RESPIRATORY-CHAIN ABNORMALITIES IN CULTURED FIBROBLASTS
Authors: BARTH PG VANDENBOGERT C BOLHUIS PA SCHOLTE HR VANGENNIP AH SCHUTGENS RBH KETEL AG
Citation: Pg. Barth et al., X-LINKED CARDIOSKELETAL MYOPATHY AND NEUTROPENIA (BARTH SYNDROME) - RESPIRATORY-CHAIN ABNORMALITIES IN CULTURED FIBROBLASTS, Journal of inherited metabolic disease, 19(2), 1996, pp. 157-160
DEPLETION OF MITOCHONDRIAL-DNA IN THE LIVER OF A PATIENT WITH LACTIC ACIDEMIA AND HYPOKETOTIC HYPOGLYCEMIA
Authors: MAASWINKELMOOIJ PD VANDENBOGERT C SCHOLTE HR ONKENHOUT W BREDEROO P POORTHUIS BJHM
Citation: Pd. Maaswinkelmooij et al., DEPLETION OF MITOCHONDRIAL-DNA IN THE LIVER OF A PATIENT WITH LACTIC ACIDEMIA AND HYPOKETOTIC HYPOGLYCEMIA, The Journal of pediatrics, 128(5), 1996, pp. 679-683
DEPLETION OF MITOCHONDRIAL DEOXYRIBONUCLEIC-ACID IN A FAMILY WITH FATAL NEONATAL LIVER-DISEASE
Authors: BAKKER HD SCHOLTE HR DINGEMANS KP SPELBRINK JN WIJBURG FA VANDENBOGERT C
Citation: Hd. Bakker et al., DEPLETION OF MITOCHONDRIAL DEOXYRIBONUCLEIC-ACID IN A FAMILY WITH FATAL NEONATAL LIVER-DISEASE, The Journal of pediatrics, 128(5), 1996, pp. 683-687
GENETIC AND BIOCHEMICAL IMPAIRMENT OF MITOCHONDRIAL COMPLEX-I ACTIVITY IN A FAMILY WITH LEBER HEREDITARY OPTIC NEUROPATHY AND HEREDITARY SPASTIC DYSTONIA
Authors: DEVRIES DD WENT LN BRUYN GW SCHOLTE HR HOFSTRA RMW BOLHUIS PA VANOOST BA
Citation: Dd. Devries et al., GENETIC AND BIOCHEMICAL IMPAIRMENT OF MITOCHONDRIAL COMPLEX-I ACTIVITY IN A FAMILY WITH LEBER HEREDITARY OPTIC NEUROPATHY AND HEREDITARY SPASTIC DYSTONIA, American journal of human genetics, 58(4), 1996, pp. 703-711
XRIBOFLAVIN-RESPONSIVE COMPLEX-I DEFICIENCY
Authors: SCHOLTE HR BUSCH HFM BAKKER HD BOGAARD JM LUYTHOUWEN IEM KUYT LP
Citation: Hr. Scholte et al., XRIBOFLAVIN-RESPONSIVE COMPLEX-I DEFICIENCY, Biochimica et biophysica acta. Molecular basis of disease, 1271(1), 1995, pp. 75-83
ISOLATED-MITOCHONDRIA FROM FROZEN MUSCLE HAVE LIMITED VALUE IN DIAGNOSTICS
Authors: SCHOLTE HR TRIJBELS JMF
Citation: Hr. Scholte et Jmf. Trijbels, ISOLATED-MITOCHONDRIA FROM FROZEN MUSCLE HAVE LIMITED VALUE IN DIAGNOSTICS, European journal of pediatrics, 154(1), 1995, pp. 80-80
VITAMIN-RESPONSIVE COMPLEX-I DEFICIENCY IN A MYOPATHIC PATIENT WITH INCREASED ACTIVITY OF THE TERMINAL RESPIRATORY-CHAIN AND LACTIC-ACIDOSIS
Authors: BAKKER HD SCHOLTE HR JENESON JAL BUSCH HFM ABELING NGGM VANGENNIP AH
Citation: Hd. Bakker et al., VITAMIN-RESPONSIVE COMPLEX-I DEFICIENCY IN A MYOPATHIC PATIENT WITH INCREASED ACTIVITY OF THE TERMINAL RESPIRATORY-CHAIN AND LACTIC-ACIDOSIS, Journal of inherited metabolic disease, 17(2), 1994, pp. 196-204
MITOCHONDRIAL ENCEPHALOMYOPATHY, LACTIC-ACIDOSIS AND STROKE IN ADULTS- 2 CASES
Authors: KREMER HPH KEYSER A WINTZEN AR SCHOLTE HR VANHELLENBERGHUBAR JGM POORTHUIS BJHM RUITENBEEK W
Citation: Hph. Kremer et al., MITOCHONDRIAL ENCEPHALOMYOPATHY, LACTIC-ACIDOSIS AND STROKE IN ADULTS- 2 CASES, Journal of neurology, 240(4), 1993, pp. 219-222
ADENINE-NUCLEOTIDE TRANSLOCATOR DEFICIENCY IN MUSCLE - POTENTIAL THERAPEUTIC VALUE OF VITAMIN-E
Authors: BAKKER HD SCHOLTE HR VANDENBOGERT C JENESON JAL RUITENBEEK W WANDERS RJA ABELING NGGM VANGENNIP AH
Citation: Hd. Bakker et al., ADENINE-NUCLEOTIDE TRANSLOCATOR DEFICIENCY IN MUSCLE - POTENTIAL THERAPEUTIC VALUE OF VITAMIN-E, Journal of inherited metabolic disease, 16(3), 1993, pp. 548-552
VITAMIN-E IN A MITOCHONDRIAL MYOPATHY WITH PROLIFERATING MITOCHONDRIA
Authors: BAKKER HD SCHOLTE HR JENESON JAL
Citation: Hd. Bakker et al., VITAMIN-E IN A MITOCHONDRIAL MYOPATHY WITH PROLIFERATING MITOCHONDRIA, Lancet, 342(8864), 1993, pp. 175-176
A FATAL, SYSTEMIC MITOCHONDRIAL DISEASE WITH DECREASED MITOCHONDRIAL ENZYME-ACTIVITIES, ABNORMAL ULTRASTRUCTURE OF THE MITOCHONDRIA AND DEFICIENCY OF HEAT-SHOCK PROTEIN-60
Authors: AGSTERIBBE E HUCKRIEDE A VEENHUIS M RUITERS MHJ NIEZENKONING KE SKJELDAL OH SKULLERUD K GUPTA RS HALLBERG R VANDIGGELEN OP SCHOLTE HR
Citation: E. Agsteribbe et al., A FATAL, SYSTEMIC MITOCHONDRIAL DISEASE WITH DECREASED MITOCHONDRIAL ENZYME-ACTIVITIES, ABNORMAL ULTRASTRUCTURE OF THE MITOCHONDRIA AND DEFICIENCY OF HEAT-SHOCK PROTEIN-60, Biochemical and biophysical research communications, 193(1), 1993, pp. 146-154
Risultati: 1-23 |